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PITHD1 (PITH domain containing 1)

Identity

Alias (NCBI)C1orf128
HT014
TXNL1CL
HGNC (Hugo) PITHD1
HGNC Alias symbHT014
TXNL1CL
HGNC Alias nameTXNL1 C-terminal like
HGNC Previous nameC1orf128
HGNC Previous namechromosome 1 open reading frame 128
 PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1
LocusID (NCBI) 57095
Atlas_Id 40892
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 23778418 and ends at 23788232 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MYH9 (22q12.3) / PITHD1 (1p36.11)PITHD1 (1p36.11) / TPCN1 (12q24.13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PITHD1   25022
Cards
Entrez_Gene (NCBI)PITHD1    PITH domain containing 1
AliasesC1orf128; HT014; TXNL1CL
GeneCards (Weizmann)PITHD1
Ensembl hg19 (Hinxton)ENSG00000057757 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000057757 [Gene_View]  ENSG00000057757 [Sequence]  chr1:23778418-23788232 [Contig_View]  PITHD1 [Vega]
ICGC DataPortalENSG00000057757
TCGA cBioPortalPITHD1
AceView (NCBI)PITHD1
Genatlas (Paris)PITHD1
SOURCE (Princeton)PITHD1
Genetics Home Reference (NIH)PITHD1
Genomic and cartography
GoldenPath hg38 (UCSC)PITHD1  -     chr1:23778418-23788232 +  1p36.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PITHD1  -     1p36.11   [Description]    (hg19-Feb_2009)
GoldenPathPITHD1 - 1p36.11 [CytoView hg19]  PITHD1 - 1p36.11 [CytoView hg38]
ImmunoBaseENSG00000057757
Genome Data Viewer NCBIPITHD1 [Mapview hg19]  
OMIM618784   
Gene and transcription
Genbank (Entrez)AF218024 AF221595 AF271784 AK093546 AK296662
RefSeq transcript (Entrez)NM_020362
Consensus coding sequences : CCDS (NCBI)PITHD1
Gene ExpressionPITHD1 [ NCBI-GEO ]   PITHD1 [ EBI - ARRAY_EXPRESS ]   PITHD1 [ SEEK ]   PITHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PITHD1 [ Firebrowse - Broad ]
GenevisibleExpression of PITHD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57095
GTEX Portal (Tissue expression)PITHD1
Human Protein AtlasENSG00000057757-PITHD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9GZP4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9GZP4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9GZP4
PhosPhoSitePlusQ9GZP4
Domaine pattern : Prosite (Expaxy)PITH (PS51532)   
Domains : Interpro (EBI)Galactose-bd-like_sf    PITH_dom    PITH_dom_sf   
Domain families : Pfam (Sanger)PITH (PF06201)   
Domain families : Pfam (NCBI)pfam06201   
Conserved Domain (NCBI)PITHD1
SuperfamilyQ9GZP4
AlphaFold pdb e-kbQ9GZP4   
Human Protein Atlas [tissue]ENSG00000057757-PITHD1 [tissue]
HPRD13717
Protein Interaction databases
DIP (DOE-UCLA)Q9GZP4
IntAct (EBI)Q9GZP4
BioGRIDPITHD1
STRING (EMBL)PITHD1
ZODIACPITHD1
Ontologies - Pathways
QuickGOQ9GZP4
Ontology : AmiGOnucleus  nucleus  cytoplasm  spermatid development  penetration of zona pellucida  positive regulation of megakaryocyte differentiation  positive regulation of transcription, DNA-templated  regulation of proteasomal protein catabolic process  penetration of cumulus oophorus  sperm cytoplasmic droplet  
Ontology : EGO-EBInucleus  nucleus  cytoplasm  spermatid development  penetration of zona pellucida  positive regulation of megakaryocyte differentiation  positive regulation of transcription, DNA-templated  regulation of proteasomal protein catabolic process  penetration of cumulus oophorus  sperm cytoplasmic droplet  
NDEx NetworkPITHD1
Atlas of Cancer Signalling NetworkPITHD1
Wikipedia pathwaysPITHD1
Orthology - Evolution
OrthoDB57095
GeneTree (enSembl)ENSG00000057757
Phylogenetic Trees/Animal Genes : TreeFamPITHD1
Homologs : HomoloGenePITHD1
Homology/Alignments : Family Browser (UCSC)PITHD1
Gene fusions - Rearrangements
Fusion : QuiverPITHD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPITHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITHD1
dbVarPITHD1
ClinVarPITHD1
MonarchPITHD1
1000_GenomesPITHD1 
Exome Variant ServerPITHD1
GNOMAD BrowserENSG00000057757
Varsome BrowserPITHD1
ACMGPITHD1 variants
VarityQ9GZP4
Genomic Variants (DGV)PITHD1 [DGVbeta]
DECIPHERPITHD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPITHD1 
Mutations
ICGC Data PortalPITHD1 
TCGA Data PortalPITHD1 
Broad Tumor PortalPITHD1
OASIS PortalPITHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPITHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPITHD1
Mutations and Diseases : HGMDPITHD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPITHD1
DgiDB (Drug Gene Interaction Database)PITHD1
DoCM (Curated mutations)PITHD1
CIViC (Clinical Interpretations of Variants in Cancer)PITHD1
Cancer3DPITHD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618784   
Orphanet
DisGeNETPITHD1
MedgenPITHD1
Genetic Testing Registry PITHD1
NextProtQ9GZP4 [Medical]
GENETestsPITHD1
Target ValidationPITHD1
Huge Navigator PITHD1 [HugePedia]
ClinGenPITHD1
Clinical trials, drugs, therapy
MyCancerGenomePITHD1
Protein Interactions : CTDPITHD1
Pharm GKB GenePA142672446
PharosQ9GZP4
Clinical trialPITHD1
Miscellaneous
canSAR (ICR)PITHD1
HarmonizomePITHD1
DataMed IndexPITHD1
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPITHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:25:25 CEST 2021

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